Endocrine Abstracts

For the past two decades, genetics has been widely explored as a tool for unravelling the pathogenesis of cardio-metabolic disorders. Many risk alleles for type 2 diabetes and hyperglycaemia have been detected in recent years through massive genome-wide association studies and evidence exists that most of these variants influence pancreatic β-cell function. Investigations of more detailed physiological phenotypes, are now emerging and give indications of more specific pathological mechanism for diabetes-related risk variants. Such studies have shed light on the function of some loci but also underlined the complex nature of disease mechanism. In the future, sequencing-based discovery of low-frequency variants with higher impact on intermediate diabetes-related traits is a likely scenario and identification of new pathways involved in type 2 diabetes predisposition will offer opportunities for the development of novel therapeutic and preventative approaches. Furthermore, we recently described the Illumina-based metagenomic sequencing assembly and characterisation of 3.3 million non-redundant microbial genes from faecal samples of 124 European individuals. The extensive gene catalogue has enabled us to perform studies of association of the microbial genes with human metabolic phenotypes.